Kohno Genta, Ogawa Katsuhiko, Kushimoto Masaru, Tanaka Sho, Ikeda Jin, Nishizawa Tsukasa, Mitsuke Kazutaka, Nakayama Tomohiro, Suzuki Yutaka, Ishihara Hisamitsu, Fujishiro Midori
Division of Diabetes and Metabolic Diseases, Department of Internal Medicine, Nihon University School of Medicine, Tokyo, Japan.
Department of Internal Medicine, Nihon University Hospital, Tokyo, Japan.
Front Neurol. 2019 Jul 4;10:681. doi: 10.3389/fneur.2019.00681. eCollection 2019.
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by progressive muscle weakness and myotonia along with multiple organ system involvements. Overall, DM1 patients show reduced life expectancy, mainly due to respiratory or cardiac abnormalities. Chronic respiratory impairment is associated with increased morbidity in DM1. The main ventilatory dysfunction etiology in DM1 is complex, consisting of both peripheral respiratory dysfunction and central respiratory drive dysfunction as well as upper airway muscle dysfunction leading to obstructive sleep apnea syndrome (SAS) and aspiration. Advancements in early diagnosis of DM1 and management with non-invasive therapeutic tools have improved life expectancy for DM1 patients. We present herein two siblings with DM1, a thin elder brother and an obese younger sister with visceral fat accumulation. Although neither had voluntary symptoms related to respiratory dysfunction, their apnea-hypopnea indices revealed severe SAS and subsequent arterial blood gases studies showed hypercapnia as well as hypoxia, suggesting central nervous system involvement with peripheral respiratory dysfunction. Non-invasive positive pressure ventilation during sleep was started following pulmonary assessment. Respiratory function should be assessed in DM1 patients, even those free of respiratory symptoms, because respiratory muscle weakness occurs in a high percentage of these patients and will shorten their lives.
1型强直性肌营养不良症（DM1）是一种常染色体显性疾病，其特征为进行性肌肉无力和肌强直，同时累及多个器官系统。总体而言，DM1患者的预期寿命缩短，主要原因是呼吸或心脏异常。慢性呼吸功能损害与DM1患者发病率增加有关。DM1主要的通气功能障碍病因较为复杂，包括外周呼吸功能障碍、中枢呼吸驱动功能障碍以及导致阻塞性睡眠呼吸暂停综合征（SAS）和误吸的上气道肌肉功能障碍。DM1早期诊断及无创治疗手段管理方面的进展提高了DM1患者的预期寿命。我们在此介绍两名患有DM1的兄弟姐妹，哥哥瘦，妹妹胖且有内脏脂肪堆积。尽管两人均无与呼吸功能障碍相关的自觉症状，但他们的呼吸暂停低通气指数显示存在严重的SAS，随后的动脉血气研究显示存在高碳酸血症及低氧血症，提示中枢神经系统受累并伴有外周呼吸功能障碍。在进行肺部评估后，开始在睡眠期间进行无创正压通气。DM1患者即使没有呼吸症状，也应评估呼吸功能，因为这些患者中很大一部分存在呼吸肌无力，这会缩短他们的寿命。
